Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 (original) (raw)

Access this article

Log in via an institution

Subscribe and save

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Zatz M, Penha-Serrano C, Otto PA (1976) X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 13:217–222
    Article CAS PubMed PubMed Central Google Scholar
  2. Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M (2002) Further evidence for a fourth gene causing X-linked pure spastic paraplegia. Am J Med Genet 111:152–156
    Article CAS PubMed Google Scholar
  3. Krantic S, Mechawar N, Reix S, Quirion R (2007) Apoptosis-inducing factor: a matter of neuron life and death. Prog Neurobiol 81(3):179–196 Feb
    Article CAS PubMed Google Scholar
  4. Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nat Genet 7(3):351–352, Jul
    Article CAS PubMed Google Scholar
  5. Fink JK (2003) The hereditary spastic paraplegias. Nine genes and counting. Arch Neurol 60:1045–1049
    Article PubMed Google Scholar
  6. Tamagaki A, Shima M, Tomita R, Okumura M, Shibata M, Morichika S, Kurahashi H, Giddings JC, Yoshioka A, Yokobayashi Y (2000) Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet 94:5–8
    Article CAS PubMed Google Scholar

Download references

Acknowledgement

Supported by FAPESP-CEPID.

Author information

Authors and Affiliations

  1. Center for Studies of the Human Genome, University of São Paulo Institute of Biosciences, São Paulo, São Paulo, Brazil
    Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Rafaella M. P. Nascimento & Mayana Zatz
  2. Child Neurology Service, University of São Paulo School of Medicine, São Paulo, São Paulo, Brazil
    Fernando Kok, Clarissa Bueno, Marcília Martyn & Emília K. E. A. Leão
  3. Department of Neurology, University of São Paulo School of Medicine, Av. Dr. Enéas de Carvalho Aguiar, 255/5131, São Paulo, São Paulo, Brazil
    Fernando Kok

Authors

  1. Lúcia Inês Macedo-Souza
    You can also search for this author inPubMed Google Scholar
  2. Fernando Kok
    You can also search for this author inPubMed Google Scholar
  3. Silvana Santos
    You can also search for this author inPubMed Google Scholar
  4. Luciana Licinio
    You can also search for this author inPubMed Google Scholar
  5. Karina Lezirovitz
    You can also search for this author inPubMed Google Scholar
  6. Rafaella M. P. Nascimento
    You can also search for this author inPubMed Google Scholar
  7. Clarissa Bueno
    You can also search for this author inPubMed Google Scholar
  8. Marcília Martyn
    You can also search for this author inPubMed Google Scholar
  9. Emília K. E. A. Leão
    You can also search for this author inPubMed Google Scholar
  10. Mayana Zatz
    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence toFernando Kok.

Additional information

Lúcia Inês Macedo-Souza and Fernando Kok contributed equally to this study.

Rights and permissions

About this article

Cite this article

Macedo-Souza, L.I., Kok, F., Santos, S. et al. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.Neurogenetics 9, 225–226 (2008). https://doi.org/10.1007/s10048-008-0130-8

Download citation

Keywords